Special variant of histiocytosis

Quint, Koen D.; Cleven, Arjen H.G.; Vermeer, Maarten H.

doi:10.1136/bcr-2017-221538

Cited by 4 publications

(3 citation statements)

References 4 publications

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“…We then selected and included in the study 78 papers, describing 108 patients (Figure 1). 5,8,9,12,32–106 From two case series, we included only some of the described patients, as indicated in Table 1 12,48 …”

Section: Resultsmentioning

confidence: 99%

“…Molecular analyses were conducted in 27/108 cases (24%). Five out of seven tested cases displayed an ETV3::NCOA2 rearrangement, 68,81,105 while pERK pathway genes mutation was detected in 5/19 tested cases and included two patients bearing KRAS mutation, 79,103 and one case each with an NRAS, 60 MAP2K1, 99 and BRAF V600E point mutation. 75 Two cases bore TET2 mutations.…”

Section: Histopathology and Molecular Biologymentioning

confidence: 99%

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Indeterminate cell histiocytosis: A systematic review of the literature with a comprehensive revision of clinical, histopathological, and molecular features

Zanella

Berti

Bonometti

2023

Acad Dermatol Venereol

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Indeterminate cell histiocytosis (ICH) is a very rare histiocytic disorder, primarily involving the skin. It affects more frequently adults, often presenting with a generalized papular eruption, and needs to be differentiated from other neoplastic, paraneoplastic, and infectious diseases through clinical and histological examination. The knowledge on ICH is limited to case reports and small series. Thus, the lack of larger multicentric studies has prevented recognizing and addressing the specific clinical need of the entity. In this systematic review, we comprehensively analysed the medical literature describing histologically‐confirmed cases of ICH and divided the patients into epidemiologically and clinically different groups. We demonstrate that ICH in adulthood is strongly associated with the development of haematological (and especially myeloid) neoplasms. In this subset of patients, we identify blastic morphology of neoplastic cells as a novel independent prognostic factor and an early histopathological predictor of an associated myeloid neoplasm. Moreover, we highlight that even though ICH may also present in childhood, these patients often show indolent behaviour. Genetically, ICH emerges as a heterogeneous condition. While patients with associated myeloid neoplasms are enriched in pERK pathway gene mutations, in others a specific ETV3::NCOA2 rearrangement is described. We finally reviewe the nosology of ICH since its first description, its possible cell of origin, and summarize the therapeutic options reported for each different clinical subgroup. With this work, we hope to foster studies on rare cutaneous histiocytosis and their comprehensive multidisciplinary characterization.

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Section: Resultsmentioning

confidence: 99%

Section: Histopathology and Molecular Biologymentioning

confidence: 99%

Indeterminate cell histiocytosis: A systematic review of the literature with a comprehensive revision of clinical, histopathological, and molecular features

Zanella

Berti

Bonometti

2023

Acad Dermatol Venereol

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“…Of those 10 cases, 5 demonstrated ETV3-NCOA2 gene fusion (Table 1). 3–7 Brown et al 3 (2015) also demonstrated that FISH for ETV3-NCOA2 translocation was negative in a group of patients without ICH, which included patients with Langerhans cell histiocytosis or non-Langerhans cell histiocytoses. These studies together suggest that ETV3-NCOA2 gene fusion may be a specific but nonsensitive marker for ICH.…”

Section: Discussionmentioning

confidence: 99%

An Atypical Myelomonocytic Cell Infiltrate: Use of Next-Generation Sequencing to Diagnose Indeterminate Cell Histiocytosis

Belina

Kwock²,

Al‐Rohil

et al. 2022

The American Journal of Dermatopathology

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Indeterminant cell histiocytosis (ICH) is a rare lymphoproliferative disorder that demonstrates features of Langerhans and non-Langerhans cell histiocytoses and diagnosis can be challenging. We present a case of a 62 year old woman with a generalized eruption of erythematous papules on the face, trunk and extremities. Skin biopsies demonstrated a dermal mononuclear cell infiltrate with monocytic (CD4, CD33), histiocytic (CD68, CD163), and dendritic cell (CD1a) immunophenotype but negative for Langerhans' cell marker (CD207). The differential diagnosis included leukemia cutis and ICH, and further workup revealed a normal bone marrow biopsy. To confirm the diagnosis of ICH, next generation sequencing with ETV3-NCOA2 gene fusion was performed and was positive. The patient's condition improved with methotrexate and narrow band UVB phototherapy. Our case adds to the existing literature supporting the use of next-generation sequencing to test for ETV3-NCOA2 gene fusion in suspected cases of ICH.

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Indeterminate Cell Histiocytosis and Mycosis Fungoides: A Hitherto Unreported Association

Tardío¹,

Arias

Khedaoui³

2019

The American Journal of Dermatopathology

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Special variant of histiocytosis

Abstract: Indeterminate cell histiocytosis is a rare variant of histiocytosis. The diagnosis is currently based on presence and absence of immunohistochemical markers. The current case described an indeterminate cell histiocytosis with translocation.

Cited by 4 publications

References 4 publications

Indeterminate cell histiocytosis: A systematic review of the literature with a comprehensive revision of clinical, histopathological, and molecular features

Indeterminate cell histiocytosis: A systematic review of the literature with a comprehensive revision of clinical, histopathological, and molecular features

An Atypical Myelomonocytic Cell Infiltrate: Use of Next-Generation Sequencing to Diagnose Indeterminate Cell Histiocytosis

Indeterminate Cell Histiocytosis and Mycosis Fungoides: A Hitherto Unreported Association

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